Academic Journal
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
| العنوان: | EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta |
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| المؤلفون: | van Dijk, F. S., Byers, P. H., Dalgleish, Raymond Walter Miller, Malfait, F., Maugeri, A., Rohrbach, M., Symoens, S., Sistermans, E. A., Pals, G. |
| بيانات النشر: | Nature Publishing Group for European Society of Human Genetics |
| سنة النشر: | 2016 |
| المجموعة: | University of Leicester: Leicester Research Archive (LRA) |
| مصطلحات موضوعية: | Collagen Type I, Fibroblasts, Genetic Counseling, Genetic Diseases, Inborn, Genetic Testing, Heterozygote, Humans, Inheritance Patterns, Mutation, Osteogenesis Imperfecta, Preimplantation Diagnosis, Prenatal Diagnosis |
| الوصف: | Osteogenesis imperfecta (OI) comprises a group of inherited disorders characterized by bone fragility and increased susceptibility to fractures. Historically, the laboratory confirmation of the diagnosis OI rested on cultured dermal fibroblasts to identify decreased or abnormal production of abnormal type I (pro)collagen molecules, measured by gel electrophoresis. With the discovery of COL1A1 and COL1A2 gene variants as a cause of OI, sequence analysis of these genes was added to the diagnostic process. Nowadays, OI is known to be genetically heterogeneous. About 90% of individuals with OI are heterozygous for causative variants in the COL1A1 and COL1A2 genes. The majority of remaining affected individuals have recessively inherited forms of OI with the causative variants in the more recently discovered genes CRTAP, FKBP10, LEPRE1,PLOD2, PPIB, SERPINF1, SERPINH1 and SP7, or in other yet undiscovered genes. These advances in the molecular genetic diagnosis of OI prompted us to develop new guidelines for molecular testing and reporting of results in which we take into account that testing is also used to 'exclude' OI when there is suspicion of non-accidental injury. Diagnostic flow, methods and reporting scenarios were discussed during an international workshop with 17 clinicians and scientists from 11 countries and converged in these best practice guidelines for the laboratory diagnosis of OI. ; Peer-reviewed ; Publisher Version |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1018-4813 1476-5438 |
| Relation: | http://www.ncbi.nlm.nih.gov/pubmed/21829228; European Journal of Human Genetics, 2012, 20 (1), pp. 11-19; http://www.nature.com/ejhg/journal/v20/n1/full/ejhg2011141a.html; http://hdl.handle.net/2381/37205; ejhg2011141 |
| DOI: | 10.1038/ejhg.2011.141 |
| الاتاحة: | http://www.nature.com/ejhg/journal/v20/n1/full/ejhg2011141a.html http://hdl.handle.net/2381/37205 https://doi.org/10.1038/ejhg.2011.141 |
| Rights: | Copyright © 2011, the authors. This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivative Works 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/3.0/ |
| رقم الانضمام: | edsbas.4FA26724 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 10184813 14765438 |
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| DOI: | 10.1038/ejhg.2011.141 |